Everything you need to analyze your genome locally.
| Requirement | Details |
|---|---|
| Operating System | macOS 12+ (Apple Silicon or Intel), Windows 10+, Linux |
| RAM | 4 GB minimum, 8 GB recommended |
| Disk Space | ~2 GB (ClinVar database + application) |
| Internet | Required only for initial ClinVar database download (~400 MB) |
No Python or command line needed. BioDecode is a native desktop application. Everything is bundled — just download, install, and run.
After purchasing, you'll receive a license key by email. Download the BioDecode installer for your platform from the link in your email.
.dmg file and drag BioDecode to your Applications folder..msi installer and follow the prompts..AppImage or .deb package.When you first open BioDecode, you'll see the activation screen. Paste the license key from your email and click Activate. Your license works offline — no internet connection required after activation.
One-time purchase, no subscription. Your license key never expires and works on any of your personal machines. No account creation needed.
After activation, BioDecode will automatically set up the ClinVar database. This is a one-time process:
You'll see a progress log showing every step in real time. No manual intervention needed.
All data stays on your machine. The ClinVar database is stored at ~/.biodecode/data/. Your genomic data is never uploaded anywhere.
Once the database is ready, you can analyze your genome:
.vcf or .vcf.gz file onto the drop zone, or click Browse Files to select it.BioDecode will:
Supported formats: VCF 4.x files, both uncompressed (.vcf) and BGZF-compressed (.vcf.gz). Optimized for GATK HaplotypeCaller output on the GRCh38 (hg38) reference genome.
Your report appears inline in the app and is also saved to ~/.biodecode/output/ in three formats:
The full interactive report displays directly in BioDecode. It includes summary statistics, variant tables for each significance category, and clickable links to ClinVar and dbSNP. You can use Save as PDF to export it.
| Category | Meaning |
|---|---|
| Pathogenic | Variant is classified as disease-causing in ClinVar |
| Likely Pathogenic | Strong evidence of being disease-causing, but not definitive |
| Uncertain Significance (VUS) | Not enough evidence to classify as pathogenic or benign |
| Drug Response | Affects how you metabolize or respond to specific medications |
| Risk Factor | Associated with increased risk for a condition |
| Conflicting | Different labs have submitted conflicting classifications |
| Likely Benign / Benign | Variant is not expected to cause disease |
| Stars | Meaning |
|---|---|
| ★★★★ | Practice guideline |
| ★★★☆ | Reviewed by expert panel |
| ★★☆☆ | Multiple submitters, no conflicts |
| ★☆☆☆ | Single submitter |
| ☆☆☆☆ | No assertion criteria provided |
Important: Higher star ratings indicate stronger evidence. Variants with 0 stars should be interpreted with caution — they may be submitted without supporting evidence. Always prioritize findings with 2+ stars.
BioDecode includes a de-identified Markdown report designed for sharing with AI language models to get plain-language explanations.
Privacy note: The Markdown report contains only variant-level data (gene names, positions, ClinVar classifications). No personally identifiable information is included. It's safe to share with any LLM service.
Remember: LLM-generated interpretations are NOT medical advice. AI models can make mistakes. The ClinVar data in your report is the authoritative source — the LLM is just helping you understand it in plain language. Always consult a genetic counselor for medical decisions.
ClinVar is updated weekly by NCBI. To get the latest variant classifications:
This is free — ClinVar data is in the public domain (NCBI policy).
BioDecode supports VCF 4.x files, both uncompressed (.vcf) and BGZF-compressed (.vcf.gz). It's optimized for GATK HaplotypeCaller output on the GRCh38 (hg38) reference genome.
Currently, BioDecode matches against GRCh38 ClinVar coordinates only. If your VCF uses hg19, you'll need to lift over to hg38 first using a tool like UCSC LiftOver or Picard LiftoverVcf.
No. BioDecode processes everything locally. The only network activity is the initial download of ClinVar data from NCBI's public FTP server. Your VCF file and reports never leave your machine.
Not directly. 23andMe and AncestryDNA provide genotyping chip data, not whole genome sequencing. Their raw data formats are different from VCF. You would need to convert their data to VCF format first. Tools exist for this, but coverage will be limited to the SNPs on their genotyping chip (~650K variants vs 4.7M+ for whole genome).
A "pathogenic" classification in ClinVar means that variant has been reported as disease-causing by clinical laboratories. However, context matters:
Do not panic. Many people carry pathogenic variants without being affected, especially for recessive conditions (where you need two copies). The most important steps are:
Reports are saved to ~/.biodecode/output/ in HTML, JSON, and Markdown formats. Each analysis creates a timestamped set of files.
Yes. Your license key works on any of your personal machines. Simply install BioDecode and enter your key.
Contact us at hello@biodecode.io for technical issues with the software.